Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1047624774
rs1047624774
2 1.000 0.120 1 203700807 missense variant T/C snv 4.0E-06 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs104893714
rs104893714
3 0.925 0.120 3 8745701 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1064795287
rs1064795287
2 0.925 0.120 7 150947683 frameshift variant GG/T delins 0.010 1.000 1 2018 2018
dbSNP: rs10800397
rs10800397
1 1.000 0.120 1 162267300 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1085307479
rs1085307479
1 1.000 0.120 14 90404691 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1137617
rs1137617
1 1.000 0.120 7 150951110 stop gained A/C;G;T snv 0.66 0.010 1.000 1 2009 2009
dbSNP: rs11551462
rs11551462
2 0.925 0.120 2 47160802 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs1167115018
rs1167115018
5 0.827 0.160 6 26092760 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs120074181
rs120074181
2 0.925 0.120 11 2572981 missense variant G/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs120074187
rs120074187
3 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs120074191
rs120074191
2 0.925 0.120 11 2445448 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs121912511
rs121912511
2 0.925 0.120 7 150974825 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs1254179611
rs1254179611
3 1.000 0.120 7 150958295 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs12720452
rs12720452
5 0.882 0.120 3 38603758 missense variant C/T snv 2.9E-04 2.9E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs1287693879
rs1287693879
2 1.000 0.120 6 38737083 missense variant T/C snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1299120831
rs1299120831
1 1.000 0.120 6 83661523 missense variant T/C snv 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1343191564
rs1343191564
1 1.000 0.120 12 2688616 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs137854614
rs137854614
3 0.882 0.120 3 38550988 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs137854615
rs137854615
4 0.851 0.120 3 38550989 missense variant A/G snv 0.010 1.000 1 2006 2006
dbSNP: rs1380382303
rs1380382303
2 0.925 0.120 7 150950989 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs138776684
rs138776684
2 0.925 0.120 7 150957380 missense variant G/A snv 1.1E-03 6.3E-04 0.010 1.000 1 2011 2011
dbSNP: rs139467962
rs139467962
2 1.000 0.120 20 33412702 missense variant G/A snv 1.6E-05 4.9E-05 0.010 1.000 1 2013 2013
dbSNP: rs139544114
rs139544114
1 1.000 0.120 7 150959602 missense variant G/A;T snv 1.2E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1408198357
rs1408198357
1 1.000 0.120 4 113373391 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs146695489
rs146695489
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013